ABCC8-related conditions include familial hyperinsulinism (FHI), permanent neonatal diabetes mellitus, and maturity-onset diabetes of the young.
These conditions are associated with low blood sugar levels (hypoglycemia) and low birth weight. Symptoms may present at birth where newborns may have difficulty breathing and feeding, and poor muscle tone. Hypoglycemia can range from mild to severe, even within the same family.
This group of conditions is caused by pathogenic (disease-causing) variants in the ABCC8 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Ashkenazi Jewish descent have a 1 in 52 chance to be a carrier.
Carriers may be at risk for symptoms related to hyperinsulinism. If you are found to be a carrier, a genetic counselor can talk to you in more detail about this risk and what it means.
Other names for this condition are familial hyperinsulinism and ABCC8-related hyperinsulinism.
Resources:
Congenital Hyperinsulinism International
Revised October 2023
